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    Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome

    Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome by Marta Gil-Salvador, Laura Trujillano, Cristina Lucia-Campos, Julia Del Rincón, Pilar Pamplona, María Arnedo, Beatriz Puisac, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Feliciano J. Ramos, Juan Pié, Ana Latorre-Pellicer

    Published 2025-07-01
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